ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.11127T>C (p.Ala3709=)

gnomAD frequency: 0.50384  dbSNP: rs7819099
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078837 SCV000110697 benign not specified 2014-05-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000078837 SCV000269653 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Ala3846Ala in exon 32 of PLEC: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 44.0% (3625/8232) of European American chromosomes from a broad population by the NHLBI Exome Seq uencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs7819099).
PreventionGenetics, part of Exact Sciences RCV000078837 SCV000304304 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001516976 SCV001725357 benign Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001538477 SCV001756131 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789024 SCV002031864 benign Epidermolysis bullosa simplex with nail dystrophy 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789021 SCV002031875 benign Epidermolysis bullosa simplex, Ogna type 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789020 SCV002031886 benign Epidermolysis bullosa simplex 5B, with muscular dystrophy 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789022 SCV002031897 benign Epidermolysis bullosa simplex 5C, with pyloric atresia 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789023 SCV002031908 benign Autosomal recessive limb-girdle muscular dystrophy type 2Q 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001538477 SCV005267412 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000078837 SCV000152225 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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